ClinVar Miner

Variants from Science for Life laboratory, Karolinska Institutet with conflicting interpretations

Location: Sweden — Primary collection method: not provided
Minimum review status of the submission from Science for Life laboratory, Karolinska Institutet: Collection method of the submission from Science for Life laboratory, Karolinska Institutet:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
392 0 7 0 2 0 8 15

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All submitters
Science for Life laboratory, Karolinska Institutet pathogenic likely pathogenic uncertain significance likely benign benign
uncertain significance 4 7 7 1 1

Submitter to submitter summary #

Total submitters: 16
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
Invitae 0 0 6 0 0 0 2 8
Database of Curated Mutations (DoCM) 0 0 0 0 0 0 6 6
Ambry Genetics 0 0 2 0 1 0 2 5
GeneDx 0 0 0 0 1 0 3 4
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 0 0 0 0 0 0 3 3
OMIM 0 0 0 0 0 0 1 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 0 0 1 1
Counsyl 0 0 1 0 0 0 0 1
Mendelics 0 0 0 0 0 0 1 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 0 0 0 0 1 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 0 0 0 0 1 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 0 0 0 0 0 1 1
Pathway Genomics 0 0 0 0 0 0 1 1
Prostate Cancer Research Center,Institute of Biosciences and Medical Technology, University of Tampere 0 0 0 0 0 0 1 1
Color 0 0 1 0 0 0 0 1
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 0 1 0 0 0 0 1

All variants with conflicting interpretations #

Total variants: 15
Download table as spreadsheet
HGVS dbSNP
NM_000088.3(COL1A1):c.3277C>T (p.Arg1093Cys) rs72656307
NM_000388.3(CASR):c.3121C>T (p.Arg1041Trp) rs193921082
NM_000546.5(TP53):c.817C>T (p.Arg273Cys) rs121913343
NM_001007228.1(SPOP):c.305T>G (p.Phe102Cys) rs193920894
NM_001007228.1(SPOP):c.399C>G (p.Phe133Leu) rs193921065
NM_001126115.1(TP53):c.318T>G (p.Cys106Trp) rs193920789
NM_001126115.1(TP53):c.401G>A (p.Gly134Glu) rs193920774
NM_001126115.1(TP53):c.443G>T (p.Arg148Ile) rs121912660
NM_001126115.1(TP53):c.85G>A (p.Ala29Thr) rs193920817
NM_001127608.2(FAM189A2):c.704-5delA rs193921010
NM_001904.3(CTNNB1):c.101G>T (p.Gly34Val) rs28931589
NM_002485.4(NBN):c.244A>G (p.Lys82Glu) rs193921030
NM_005732.3(RAD50):c.1513A>G (p.Ile505Val) rs193921012
NM_170724.2(PKHD1):c.544G>A (p.Ala182Thr) rs142346881
NM_198270.3(NHS):c.2141G>A (p.Arg714His) rs193921046

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